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This gene encodes a protein that belongs to the Rel homology domain/immunoglobulin-like fold, plexin, transcription factor (RHD/IPT) family. Members of this family regulate genes involved in apoptosis, inflammation, the immune response, and oncogenic processes. This proto-oncogene plays a role in the survival and proliferation of B lymphocytes. Mutation or amplification of this gene is associated with B-cell lymphomas, including Hodgkin's lymphoma. Single nucleotide polymorphisms in this gene are associated with susceptibility to ulcerative colitis and rheumatoid arthritis. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2014]
REL (REL Proto-Oncogene, NF-KB Subunit) is a Protein Coding gene. Diseases associated with REL include B-Cell Lymphoma and Primary Mediastinal B-Cell Lymphoma. Among its related pathways are GDNF-Family Ligands and Receptor Interactions and Transcriptional misregulation in cancer. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and chromatin binding. An important paralog of this gene is RELA.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000977 | RNA polymerase II regulatory region sequence-specific DNA binding | IBA | 21873635 |
GO:0000978 | RNA polymerase II proximal promoter sequence-specific DNA binding | IDA | 1406630 |
GO:0000981 | DNA-binding transcription factor activity, RNA polymerase II-specific | ISM | 19274049 |
GO:0001228 | DNA-binding transcription activator activity, RNA polymerase II-specific | IDA | 1406630 |
GO:0003677 | DNA binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000790 | nuclear chromatin | ISA | -- |
GO:0005634 | nucleus | IEA,IMP | 22065573 |
GO:0005654 | nucleoplasm | TAS | -- |
GO:0005667 | transcription factor complex | IEA | -- |
GO:0005737 | cytoplasm | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Toll-Like receptor Signaling Pathways |
Mucin expression in CF via TLRs, EGFR signaling pathways
.42
Immune response TLR3 and TLR4 induce TICAM1-specific signaling pathway
.33
|
|
2 | Immune response NFAT in immune response |
Immune response ICOS pathway in T-helper cell
.56
Immune response NFAT in immune response
.56
|
Immune response T cell receptor signaling pathway
.52
Immune response CD28 signaling
.52
|
3 | Bacterial infections in CF airways |
Bacterial infections in CF airways
.78
Immune response Bacterial infections in normal airways
.78
|
Immune response TLR signaling pathways
.46
|
4 | Development A3 receptor signaling |
Development A1 receptor signaling
.65
Development A3 receptor signaling
.65
|
G-protein signaling G-Protein alpha-q signaling cascades
.53
|
5 | Development IGF-1 receptor signaling |
Development IGF-1 receptor signaling
.48
Signal transduction AKT signaling
.48
|
Immune response IL-4 signaling pathway
.38
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000122 | negative regulation of transcription by RNA polymerase II | IBA | 21873635 |
GO:0006355 | regulation of transcription, DNA-templated | IEA | -- |
GO:0006954 | inflammatory response | IBA | 21873635 |
GO:0007249 | I-kappaB kinase/NF-kappaB signaling | IEA,IBA | 21873635 |
GO:0010629 | negative regulation of gene expression | IDA | 22065573 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
---|
Compound | Action | Cas Number |
---|---|---|
JSH-23 | NF-κB inhibitor | 749886-87-1 |
QNZ (EVP4593) | Potent NF-κB inhibitor | 545380-34-5 |
Triptolide | IL-2/MMP-3/MMP7/MMP19 inhibitor | 38748-32-2 |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | REL 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | REL 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | REL 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Rel 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Rel 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | REL 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | REL 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | REL 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | REL 31 |
|
OneToOne | |
African clawed frog (Xenopus laevis) |
Amphibia | rel-A 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | rel 31 |
|
OneToOne | |
Fruit Fly (Drosophila melanogaster) |
Insecta | Rel 32 |
|
|
|
dl 31 32 |
|
ManyToMany | |||
Dif 31 32 |
|
ManyToMany | |||
Sea Vase (Ciona intestinalis) |
Ascidiacea | Cin.770 30 |
|
SNP ID | Clinical significance and condition | Chr 02 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
724129 | Benign: not provided | 60,921,972(+) | A/G | MISSENSE_VARIANT | |
755775 | Likely Benign: not provided | 60,922,427(+) | T/G | SYNONYMOUS_VARIANT | |
783329 | Benign: not provided | 60,922,403(+) | T/C | SYNONYMOUS_VARIANT | |
783974 | Benign: not provided | 60,894,435(+) | A/G | SYNONYMOUS_VARIANT | |
790504 | Benign: not provided | 60,921,853(+) | C/G | MISSENSE_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv6908n54 | CNV | gain | 21841781 |
nsv1127728 | CNV | deletion | 24896259 |
nsv1134866 | CNV | deletion | 24896259 |
nsv2749 | CNV | insertion | 18451855 |
nsv524802 | CNV | loss | 19592680 |
nsv834215 | CNV | loss | 17160897 |
nsv953131 | CNV | duplication | 24416366 |
Disorder | Aliases | PubMed IDs |
---|---|---|
b-cell lymphoma |
|
|
primary mediastinal b-cell lymphoma |
|
|
reticuloendotheliosis, x-linked |
|
|
lymphoma |
|
|
colitis |
|
|